Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002735684 | SCV003017895 | likely benign | not provided | 2025-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV005288803 | SCV005962605 | uncertain significance | not specified | 2025-02-23 | criteria provided, single submitter | clinical testing | The c.82G>A (p.A28T) alteration is located in exon 1 (coding exon 1) of the WNT2B gene. This alteration results from a G to A substitution at nucleotide position 82, causing the alanine (A) at amino acid position 28 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |